Leclair Benoît, Shaler Robert, Carmody George R, Eliason Kristilyn, Hendrickson Brant C, Judkins Thad, Norton Michael J, Sears Christopher, Scholl Tom
Myriad Genetic Laboratories, Inc., 320 Wakara Way, Salt Lake City, UT 84108, USA.
J Forensic Sci. 2007 Jul;52(4):806-19. doi: 10.1111/j.1556-4029.2007.00456.x. Epub 2007 May 25.
Victim identification initiatives undertaken in the wake of Mass Fatality Incidents (MFIs) where high-body fragmentation has been sustained are often dependent on DNA typing technologies to complete their mandate. The success of these endeavors is linked to the choice of DNA typing methods and the bioinformatic tools required to make the necessary associations. Several bioinformatic tools were developed to assist with the identification of the victims of the World Trade Center attacks, one of the most complex incidents to date. This report describes one of these tools, the Mass Disaster Kinship Analysis Program (MDKAP), a pair-wise comparison software designed to handle large numbers of complete or partial Short Tandem Repeats (STR) genotypes, and infer identity of, or biological relationships between tested samples. The software performs all functions required to take full advantage of the information content of processed genotypic data sets from large-scale MFIs, including the collapse of victims data sets, remains re-association, virtual genotype generation through gap-filling, parentage trio searching, and a consistency check of reported/inferred biological relationships within families. Although very few WTC victims were genetically related, the software can detect parentage trios from within a victim's genotype data set through a nontriangulated approach that screens all possible parentage trios. All software-inferred relationships from WTC data were confirmed by independent statistical analysis. With a 13 STR loci complement, a fortuitous parentage trio (FPT) involving nonrelated individuals was detected. Additional STR loci would be required to reduce the risk of an FPT going undetected in large-scale MFIs involving related individuals among the victims. Kinship analysis has proven successful in this incident but its continued success in larger scale MFIs is contingent on the use of a sufficient number of STR loci to reduce the risk of undetected FPTs, the use of mtDNA and Y-STRs to confirm parentage and of bioinformatics that can support large-scale comparative genotyping schemes capable of detecting parentage trios from within a group of related victims.
在大规模死亡事件（MFI）发生后，若尸体遭受了严重的肢体破碎，受害者身份识别工作往往依赖于DNA分型技术来完成任务。这些工作的成功与否与DNA分型方法的选择以及进行必要关联所需的生物信息学工具相关。为协助识别世贸中心袭击事件的受害者，人们开发了多种生物信息学工具，该事件是迄今为止最复杂的事件之一。本报告介绍了其中一种工具——大规模灾难亲属关系分析程序（MDKAP），这是一款成对比较软件，旨在处理大量完整或部分短串联重复序列（STR）基因型，并推断测试样本的身份或它们之间的生物学关系。该软件执行充分利用大规模MFI处理后的基因型数据集信息内容所需的所有功能，包括受害者数据集的整合、遗骸重新关联、通过填补空缺生成虚拟基因型、三联体亲权搜索以及对家庭内报告/推断的生物学关系进行一致性检查。尽管世贸中心的受害者之间几乎没有遗传关系，但该软件可以通过一种非三角测量方法从受害者的基因型数据集中检测三联体亲权，该方法会筛查所有可能的三联体亲权。世贸中心数据的所有软件推断关系均通过独立统计分析得到证实。在13个STR基因座的情况下，检测到了一个涉及无关个体的偶然三联体亲权（FPT）。在涉及受害者中有亲属关系的大规模MFI中，需要更多的STR基因座来降低FPT未被检测到的风险。亲属关系分析在该事件中已被证明是成功的，但在更大规模的MFI中能否持续成功，取决于使用足够数量的STR基因座以降低未检测到FPT的风险、使用线粒体DNA和Y-STR来确认亲权以及使用能够支持大规模比较基因分型方案的生物信息学，该方案能够从一组相关受害者中检测三联体亲权。
